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Aliases for SHROOM4 Gene

Aliases for SHROOM4 Gene

  • Shroom Family Member 4 2 3 5
  • Second Homolog Of Apical Protein 3 4
  • SHAP 3 4
  • Protein Shroom4 3
  • KIAA1202 4
  • Shrm4 3

External Ids for SHROOM4 Gene

Previous GeneCards Identifiers for SHROOM4 Gene

  • GC0XM050351
  • GC0XM047778
  • GC0XM050591

Summaries for SHROOM4 Gene

Entrez Gene Summary for SHROOM4 Gene

  • This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

GeneCards Summary for SHROOM4 Gene

SHROOM4 (Shroom Family Member 4) is a Protein Coding gene. Diseases associated with SHROOM4 include Stocco Dos Santos X-Linked Mental Retardation Syndrome and Stocco Dos Santos Syndrome. GO annotations related to this gene include actin filament binding. An important paralog of this gene is SHROOM3.

UniProtKB/Swiss-Prot for SHROOM4 Gene

  • Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHROOM4 Gene

Genomics for SHROOM4 Gene

Regulatory Elements for SHROOM4 Gene

Enhancers for SHROOM4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG050768 0.8 Ensembl ENCODE 11.6 +44.0 44049 2.7 NFIA PRDM10 FOS TCF7L2 SHROOM4 RNU6-935P
GH0XG050798 0.9 Ensembl ENCODE 7.6 +14.7 14663 1.8 HLF ATF2 ZNF644 ZNF7 SCRT2 TCF7 FOXP2 FOS BMP15 SHROOM4 RNU6-935P
GH0XG050812 0.4 ENCODE 6 +0.1 111 3.4 POLR2A FOXP2 SHROOM4 RNU6-935P
GH0XG050486 0.3 FANTOM5 1.5 +327.8 327793 0.1 SHROOM4 DGKK GC0XM050588
GH0XG050827 0.5 ENCODE 0.4 -14.0 -13953 0.9 FOSL1 JUND FOS SHROOM4 H3F3AP5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SHROOM4 on UCSC Golden Path with GeneCards custom track

Promoters for SHROOM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246613 502 2001 SOX13 POLR2A

Genomic Location for SHROOM4 Gene

Chromosome:
X
Start:
50,576,993 bp from pter
End:
50,814,302 bp from pter
Size:
237,310 bases
Orientation:
Minus strand

Genomic View for SHROOM4 Gene

Genes around SHROOM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHROOM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHROOM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHROOM4 Gene

Proteins for SHROOM4 Gene

  • Protein details for SHROOM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULL8-SHRM4_HUMAN
    Recommended name:
    Protein Shroom4
    Protein Accession:
    Q9ULL8
    Secondary Accessions:
    • A7E2X9
    • D6RFW0
    • Q96LA0

    Protein attributes for SHROOM4 Gene

    Size:
    1493 amino acids
    Molecular mass:
    164857 Da
    Quaternary structure:
    • Interacts directly with F-actin.
    SequenceCaution:
    • Sequence=BAA86516.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAM13070.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SHROOM4 Gene

    Alternative splice isoforms for SHROOM4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHROOM4 Gene

Post-translational modifications for SHROOM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHROOM4 Gene

Domains & Families for SHROOM4 Gene

Gene Families for SHROOM4 Gene

Protein Domains for SHROOM4 Gene

Suggested Antigen Peptide Sequences for SHROOM4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULL8

UniProtKB/Swiss-Prot:

SHRM4_HUMAN :
  • Belongs to the shroom family.
Family:
  • Belongs to the shroom family.
genes like me logo Genes that share domains with SHROOM4: view

Function for SHROOM4 Gene

Molecular function for SHROOM4 Gene

UniProtKB/Swiss-Prot Function:
Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).

Gene Ontology (GO) - Molecular Function for SHROOM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0051015 actin filament binding ISS --
genes like me logo Genes that share ontologies with SHROOM4: view

Phenotypes for SHROOM4 Gene

genes like me logo Genes that share phenotypes with SHROOM4: view

Human Phenotype Ontology for SHROOM4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SHROOM4 Gene

MGI Knock Outs for SHROOM4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SHROOM4 Gene

Localization for SHROOM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHROOM4 Gene

Cytoplasm, cytoskeleton. Note=Shows partial colocalization with the cytoplasmic pool of F-actin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHROOM4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for SHROOM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 colocalizes_with stress fiber ISS --
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IEA --
GO:0009898 cytoplasmic side of plasma membrane IDA 16249884
GO:0009925 basal plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with SHROOM4: view

Pathways & Interactions for SHROOM4 Gene

SuperPathways for SHROOM4 Gene

No Data Available

Interacting Proteins for SHROOM4 Gene

Gene Ontology (GO) - Biological Process for SHROOM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 NOT cell morphogenesis IDA 16684770
GO:0007015 actin filament organization IEA,ISS --
GO:0007275 multicellular organism development IEA --
GO:0007420 brain development IDA 16249884
GO:0030036 actin cytoskeleton organization NAS 16684770
genes like me logo Genes that share ontologies with SHROOM4: view

No data available for Pathways by source and SIGNOR curated interactions for SHROOM4 Gene

Transcripts for SHROOM4 Gene

Unigene Clusters for SHROOM4 Gene

Shroom family member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHROOM4 Gene

No ASD Table

Relevant External Links for SHROOM4 Gene

GeneLoc Exon Structure for
SHROOM4
ECgene alternative splicing isoforms for
SHROOM4

Expression for SHROOM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SHROOM4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHROOM4 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.2) and Lung (x4.1).

Protein differential expression in normal tissues from HIPED for SHROOM4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (41.1), Placenta (20.4), and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SHROOM4 Gene



Protein tissue co-expression partners for SHROOM4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SHROOM4 Gene:

SHROOM4

SOURCE GeneReport for Unigene cluster for SHROOM4 Gene:

Hs.420541

mRNA Expression by UniProt/SwissProt for SHROOM4 Gene:

Q9ULL8-SHRM4_HUMAN
Tissue specificity: Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and putamen. The expression is strongest in the medulla and weakest in the cerebral cortex.

Evidence on tissue expression from TISSUES for SHROOM4 Gene

  • Nervous system(4.2)
  • Heart(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SHROOM4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • head
Pelvis:
  • pelvis
Limb:
  • femur
  • hip
  • lower limb
  • thigh
genes like me logo Genes that share expression patterns with SHROOM4: view

Primer Products

Orthologs for SHROOM4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHROOM4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHROOM4 34 35
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia SHROOM4 34 35
  • 89.47 (n)
dog
(Canis familiaris)
Mammalia SHROOM4 34 35
  • 88.33 (n)
rat
(Rattus norvegicus)
Mammalia Shroom4 34
  • 83.04 (n)
mouse
(Mus musculus)
Mammalia Shroom4 34 16 35
  • 82.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM4 35
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHROOM4 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC777072 34
  • 59.17 (n)
SHROOM4 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHROOM4 35
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii shroom4 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shroom 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
ManyToMany
CSA.5284 35
  • 41 (a)
ManyToMany
Species where no ortholog for SHROOM4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHROOM4 Gene

ENSEMBL:
Gene Tree for SHROOM4 (if available)
TreeFam:
Gene Tree for SHROOM4 (if available)

Paralogs for SHROOM4 Gene

Paralogs for SHROOM4 Gene

(1) SIMAP similar genes for SHROOM4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SHROOM4: view

Variants for SHROOM4 Gene

Sequence variations from dbSNP and Humsavar for SHROOM4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs121434620 Pathogenic, Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) [MIM:300434] 50,607,876(-) CCAGT(C/T)GGATC nc-transcript-variant, reference, missense
rs886041718 Pathogenic 50,607,403(-) CGGGA(C/T)AGGAA nc-transcript-variant, reference, stop-gained
rs111940781 Likely benign 50,635,634(+) GCAAT(A/G)CCGGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs112588837 Likely benign 50,813,923(+) GGCTC(A/G)CAGTG nc-transcript-variant, reference, synonymous-codon
rs142189648 Likely benign 50,635,342(+) CCCCA(C/T)TGGTG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SHROOM4 Gene

Variant ID Type Subtype PubMed ID
esv1223545 CNV deletion 17803354
esv2351992 CNV deletion 18987734
esv3573961 CNV loss 25503493
esv3573962 CNV loss 25503493
esv3573963 CNV loss 25503493
nsv1141064 CNV deletion 24896259
nsv1146756 CNV deletion 26484159
nsv508772 CNV insertion 20534489
nsv527767 CNV gain 19592680

Variation tolerance for SHROOM4 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHROOM4 Gene

Human Gene Mutation Database (HGMD)
SHROOM4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHROOM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHROOM4 Gene

Disorders for SHROOM4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SHROOM4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
stocco dos santos x-linked mental retardation syndrome
  • stocco dos santos syndrome
stocco dos santos syndrome
  • mental retardation, stocco dos santos type
hip luxation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SHRM4_HUMAN
  • Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) [MIM:300434]: A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. {ECO:0000269 PubMed:16249884}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).
  • Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25.

Relevant External Links for SHROOM4

Genetic Association Database (GAD)
SHROOM4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHROOM4
genes like me logo Genes that share disorders with SHROOM4: view

No data available for Genatlas for SHROOM4 Gene

Publications for SHROOM4 Gene

  1. A new standard nomenclature for proteins related to Apx and Shroom. (PMID: 16615870) Hagens O. … Wallingford J.B. (BMC Cell Biol. 2006) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  3. Differential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteins. (PMID: 16684770) Dietz M.L. … Hildebrand J.D. (J. Biol. Chem. 2006) 3 4 64
  4. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. (PMID: 16249884) Hagens O. … Hanauer A. (Hum. Genet. 2006) 3 4 64
  5. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. (PMID: 26354767) Bailey M.L. … Hieter P. (Genetics 2015) 3 64

Products for SHROOM4 Gene

Sources for SHROOM4 Gene

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